Description: Homo sapiens BCL2-like 11 (apoptosis facilitator) (BCL2L11), transcript variant 1, mRNA. RefSeq Summary (NM_138621): The protein encoded by this gene belongs to the BCL-2 protein family. BCL-2 family members form hetero- or homodimers and act as anti- or pro-apoptotic regulators that are involved in a wide variety of cellular activities. The protein encoded by this gene contains a Bcl-2 homology domain 3 (BH3). It has been shown to interact with other members of the BCL-2 protein family and to act as an apoptotic activator. The expression of this gene can be induced by nerve growth factor (NGF), as well as by the forkhead transcription factor FKHR-L1, which suggests a role of this gene in neuronal and lymphocyte apoptosis. Transgenic studies of the mouse counterpart suggested that this gene functions as an essential initiator of apoptosis in thymocyte-negative selection. Several alternatively spliced transcript variants of this gene have been identified. [provided by RefSeq, Jun 2013]. Transcript (Including UTRs) Position: hg19 chr2:111,878,491-111,926,022 Size: 47,532 Total Exon Count: 4 Strand: + Coding Region Position: hg19 chr2:111,881,323-111,921,808 Size: 40,486 Coding Exon Count: 3
ID:B2L11_HUMAN DESCRIPTION: RecName: Full=Bcl-2-like protein 11; Short=Bcl2-L-11; AltName: Full=Bcl2-interacting mediator of cell death; FUNCTION: Induces apoptosis. Isoform BimL is more potent than isoform BimEL. Isoform Bim-alpha1, isoform Bim-alpha2 and isoform Bim-alpha3 induce apoptosis, although less potent than isoform BimEL, isoform BimL and isoform BimS. Isoform Bim-gamma induces apoptosis. Isoform Bim-alpha3 induces apoptosis possibly through a caspase-mediated pathway. Isoform BimAC and isoform BimABC lack the ability to induce apoptosis. SUBUNIT: Forms heterodimers with a number of antiapoptotic Bcl-2 proteins including MCL1, BCL2, BCL2L1 isoform Bcl-X(L), BCL2A1/BFL-1, BHRF1, and BCLW. Isoform BimS and isoform Bim-alpha3 interact with BAX; this interaction induces the conformationally active form of BAX. Does not heterodimerize with proapoptotic proteins such as BAD, BOK or BAK (By similarity). Interacts with DYNLL1 and YWHAZ (By similarity). When phosphorylated, interacts with TRIM2; this interaction is associated with ubiquitination and degradation (By similarity). INTERACTION: Q07812:BAX; NbExp=11; IntAct=EBI-526406, EBI-516580; P10415:BCL2; NbExp=4; IntAct=EBI-526420, EBI-77694; Q07440:Bcl2a1 (xeno); NbExp=2; IntAct=EBI-526406, EBI-707754; Q07817-1:BCL2L1; NbExp=8; IntAct=EBI-526406, EBI-287195; Q92843:BCL2L2; NbExp=4; IntAct=EBI-526406, EBI-707714; P63244:GNB2L1; NbExp=2; IntAct=EBI-526406, EBI-296739; Q07820:MCL1; NbExp=6; IntAct=EBI-526406, EBI-1003422; P97287:Mcl1 (xeno); NbExp=5; IntAct=EBI-526406, EBI-707292; P14174:MIF; NbExp=5; IntAct=EBI-526420, EBI-372712; SUBCELLULAR LOCATION: Endomembrane system; Peripheral membrane protein (By similarity). Note=Associated with intracytoplasmic membranes (By similarity). SUBCELLULAR LOCATION: Isoform BimEL: Mitochondrion. SUBCELLULAR LOCATION: Isoform BimL: Mitochondrion. SUBCELLULAR LOCATION: Isoform BimS: Mitochondrion. SUBCELLULAR LOCATION: Isoform Bim-alpha1: Mitochondrion. TISSUE SPECIFICITY: Isoform BimEL, isoform BimL and isoform BimS are the predominant isoforms and are ubiquitously expressed with a tissue-specific variation. Isoform Bim-gamma is most abundantly expressed in small intestine and colon, and in lower levels in spleen, prostate, testis, heart, liver and kidney. INDUCTION: By ER stress in a DDIT3/CHOP-dependent manner. DOMAIN: The BH3 motif is required for Bcl-2 binding and cytotoxicity. PTM: Phosphorylation by MAPK1/MAPK3 induces interaction with TRIM2, followed by ubiquitination (By similarity). PTM: Ubiquitinated by TRIM2 following phosphorylation by MAPK1/MAPK3, leading to degradation by the proteasome (By similarity). SIMILARITY: Belongs to the Bcl-2 family. WEB RESOURCE: Name=Atlas of Genetics and Cytogenetics in Oncology and Haematology; URL="http://atlasgeneticsoncology.org/Genes/BCL2L11ID772ch2q13.html";
Genetic Association Studies of Complex Diseases and Disorders
Cholangitis, Sclerosing Espen Melum et al. Nature genetics 2011, Genome-wide association analysis in primary sclerosing cholangitis identifies two non-HLA susceptibility loci., Nature genetics.
Chronic lymphocytic leukemia Di Bernardo ,et al. 2008, A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia, Nature genetics 2008 40- 10 : 1204-10.
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on O43521
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
Biological Process: GO:0001701 in utero embryonic development GO:0001776 leukocyte homeostasis GO:0001782 B cell homeostasis GO:0001783 B cell apoptotic process GO:0001822 kidney development GO:0001844 protein insertion into mitochondrial membrane involved in apoptotic signaling pathway GO:0002260 lymphocyte homeostasis GO:0002262 myeloid cell homeostasis GO:0006915 apoptotic process GO:0006919 activation of cysteine-type endopeptidase activity involved in apoptotic process GO:0007160 cell-matrix adhesion GO:0007283 spermatogenesis GO:0007420 brain development GO:0008584 male gonad development GO:0008630 intrinsic apoptotic signaling pathway in response to DNA damage GO:0009791 post-embryonic development GO:0010942 positive regulation of cell death GO:0030879 mammary gland development GO:0032464 positive regulation of protein homooligomerization GO:0034976 response to endoplasmic reticulum stress GO:0035148 tube formation GO:0042475 odontogenesis of dentin-containing tooth GO:0042981 regulation of apoptotic process GO:0043029 T cell homeostasis GO:0043065 positive regulation of apoptotic process GO:0043280 positive regulation of cysteine-type endopeptidase activity involved in apoptotic process GO:0043525 positive regulation of neuron apoptotic process GO:0043583 ear development GO:0045787 positive regulation of cell cycle GO:0046620 regulation of organ growth GO:0048066 developmental pigmentation GO:0048070 regulation of developmental pigmentation GO:0048536 spleen development GO:0048538 thymus development GO:0048563 post-embryonic animal organ morphogenesis GO:0060139 positive regulation of apoptotic process by virus GO:0060154 cellular process regulating host cell cycle in response to virus GO:0070242 thymocyte apoptotic process GO:0071385 cellular response to glucocorticoid stimulus GO:0090200 positive regulation of release of cytochrome c from mitochondria GO:0097192 extrinsic apoptotic signaling pathway in absence of ligand GO:1902110 positive regulation of mitochondrial membrane permeability involved in apoptotic process GO:1902237 positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway GO:1902263 apoptotic process involved in embryonic digit morphogenesis GO:1903896 positive regulation of IRE1-mediated unfolded protein response GO:2000271 positive regulation of fibroblast apoptotic process GO:2001244 positive regulation of intrinsic apoptotic signaling pathway GO:0007127 meiosis I